EFCAB3 EF-hand calcium binding domain 3

Information
Symbol
EFCAB3
Type
protein-coding
Description
EF-hand calcium binding domain 3
Entrez Gene ID
146779
Genome
hg19
Position
chr17:60,447,579-60,493,840
Genome
hg38
Position
chr17:62,370,218-62,416,479
MIM
619567 OMIM
HGNC
HGNC:26379 HGNC
Ensembl
ENSG00000172421 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 10
Likely benign 0 4
Uncertain significance 0 32
Ranking
ClinVar
0
0
2
42
0
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
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Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
MIM 619567 OMIM
HGNC HGNC:26379 HGNC
Ensembl ENSG00000172421 Ensembl
AllianceGenome HGNC:26379
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000450662.7 hg38 chr17 62,370,218 62,416,479 46,262
ENST00000305286.8 hg38 chr17 62,380,553 62,416,480 35,928
ENST00000450662.7 hg19 chr17 60,447,579 60,493,840 46,262
ENST00000305286.8 hg19 chr17 60,457,914 60,493,841 35,928
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